Linked Data
dbSNP Id:
rs776692427
ExAC:
1:43296602 GA / G
gnomAD v2:
1-43296602-GA-G
gnomAD v4:
1-42830931-GA-G
MyVariant Identifiers:
chr1:g.43296603del (hg19)
chr1:g.42830933del (hg38)
chr1:g.42830932del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42830933del , CM000663.2:g.42830933del | GRCh38 |
| NC_000001.10:g.43296604del , CM000663.1:g.43296604del | GRCh37 |
| NC_000001.9:g.43069191del | NCBI36 |
| NG_008749.1:g.18829del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372517.8:c.251del MANE Select | ENSP00000361595.2:p.Lys84ArgfsTer7 | |
| ENST00000487556.6:n.452-4105del | ||
| ENST00000642150.1:n.438del | ||
| ENST00000647120.1:n.248-4105del | ||
| ENST00000328249.3:c.-20del | ENSP00000332439.3:n.-20del | |
| ENST00000372514.7:c.251del | ENSP00000361592.3:p.Lys84ArgfsTer7 | |
| ENST00000372517.6:c.251del | ENSP00000361595.2:p.Lys84ArgfsTer7 | |
| ENST00000487556.5:n.247-4105del | ||
| NM_001017922.1:c.251del | NP_001017922.1:p.Lys84ArgfsTer7 | |
| NM_018538.3:c.251del | NP_061008.2:p.Lys84ArgfsTer7 | |
| XM_006710313.2:c.251del | XP_006710376.1:p.Lys84ArgfsTer7 | |
| XM_011540570.1:c.251del | XP_011538872.1:p.Lys84ArgfsTer7 | |
| XM_011540571.1:c.251del | XP_011538873.1:p.Lys84ArgfsTer7 | |
| XM_006710313.4:c.251del | XP_006710376.1:p.Lys84ArgfsTer7 | |
| XM_011540570.3:c.251del | XP_011538872.1:p.Lys84ArgfsTer7 | |
| XM_011540571.3:c.251del | XP_011538873.1:p.Lys84ArgfsTer7 | |
| NM_001017922.2:c.251del MANE Select | NP_001017922.1:p.Lys84ArgfsTer7 | |
| NM_018538.4:c.251del | NP_061008.2:p.Lys84ArgfsTer7 |